Canonical Allele Identifier: CA2573141640
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1552378
ClinVar RCV Id: RCV002184888
dbSNP Id: rs2128938396

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128851368A>C , CM000669.2:g.128851368A>C GRCh38
NC_000007.13:g.128491422A>C , CM000669.1:g.128491422A>C GRCh37
NC_000007.12:g.128278658A>C NCBI36
NG_011807.1:g.25940A>C , LRG_870:g.25940A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.5668+8A>C (FLNC) MANE Select ENSP00000327145.8:n.5668+8A>C
ENST00000325888.12:c.5668+8A>C (FLNC) ENSP00000327145.8:n.5668+8A>C
ENST00000346177.6:c.5569+8A>C (FLNC) ENSP00000344002.6:n.5569+8A>C
NM_001127487.1:c.5569+8A>C (FLNC) NP_001120959.1:n.5569+8A>C
NM_001458.4:c.5668+8A>C , LRG_870t1:c.5668+8A>C (FLNC) NP_001449.3:n.5668+8A>C
NR_149055.1:n.315+33T>G (FLNC-AS1)
NM_001127487.2:c.5569+8A>C (FLNC) NP_001120959.1:n.5569+8A>C
NM_001458.5:c.5668+8A>C (FLNC) MANE Select NP_001449.3:n.5668+8A>C